| Abstract [eng] |
Examination of Preterm Birth – Related Single Nucleotide Gene Polymorphisms in Newborns and Maternal Genome Martynas Kairys Systems biology master studies Vilnius University, Faculty of Medicine, Institute of Biomedical Sciences, Department of Human and Medical Genetics. Aim of the project was to analyze and evaluate single nucleotide gene polymorphisms related to preterm birth in healthy Lithuanian newborn and maternal genomes. The topic was chosen because preterm birth is still a big concern in healthcare, even with advancement of medicine. According to statistics, 13.4 million children were born preterm in 2020. This results in approximately 1 in 10 babies. Preterm born babies could face various medical conditions. Analysis was done using a makefile written by the author. Makefile is a set of rules and commands written in a specific language. Data for the research was provided by the supervisor of the thesis. Data was annotated, filtered, and prepared for further analysis. Analysis was done by calculating Hardy – Weinberg equilibriums and frequencies for the single nucleotide polymorphisms. Hardy – Weinberg equilibrium calculations were used to check which polymorphisms are imbalanced, while frequency calculations and comparison to other populations provided information about prevalence. Results for Hardy – Weinberg equilibrium showed that there is an excess of heterozygotes in Lithuanian population for some polymorphisms, associated with preterm birth. Variant frequency calculations enabled comparative analysis to other populations. It was found that most of the found SNPs had a higher frequency compared to different European populations. It was found that, both groups had variants, that are associated with preterm birth, according to literature sources. In most cases, frequencies of these variants were higher compared to analysed populations. More extensive research on this topic should be completed, including preterm – born babies’ and their mothers’ data. |
